DPYD Alleles

Common allele nameAlternative namesHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
rs3918290DPYD*2A, c.1905+1G>A NM_000110​.4:c.1905+1G>A Not applicable—deletion of exon 14 leads to the production of a truncated protein rs3918290 
IVS14+1G>A
rs55886062DPYD*13, c.1679T>G, rs55886062.1, p.Ile560Ser NM_000110​.4:c.1679T>G NP_000101​.2:p.Ile560Ser rs55886062
rs67376798c.2846A>T
p.Asp949Val		 NM_000110​.4:c.2846A>T NP_000101​.2:p.Asp949Val rs67376798
rs75017182c.1129–5923C>G NM_000110​.4:c.1129-5923C>G rs75017182
rs1801159DPYD*5, c.1627G>A NM_000110​.4:c.1627A>G NP_000101​.2:p.Ile543Val rs1801159
rs1801265DPYD*9A, c.85T>C NM_000110​.4:c.85T>C NP_000101​.2:p.Cys29Arg rs1801265
rs1801158DPYD*4, c.1601G>A NM_000110​.4:c.1601G>A NP_000101​.2:p.Ser534Asn rs1801158
rs1801160DPYD*6, c.2194G>A NM_000110​.4:c.2194G>A NP_000101​.2:p.Val732Ile rs1801160
rs72549306DPYD*11, c.1003G>T, rs72549306.1NM_000110.4:c.1003G>TNP_000101.2:p.Val335Leu rs72549306
rs1801267DPYD*9B, c.2657G>A NM_000110​.4:c.2657G>A NP_000101​.2:p.Arg886His rs1801267
rs72549303DPYD*3, c.1898delC NM_000110​.4:c.1898del NP_000101​.2:p.Pro633fs rs72549303
rs72549309DPYD*7, c.295_298delTCAT NM_000110​.4:c.295_298TCAT[1] NP_000101​.2:p.Phe100fs rs72549309
rs1801266DPYD*8, c.703C>T NM_000110​.4:c.703C>T NP_000101​.2:p.Arg235Trp rs1801266
rs1801268DPYD*10, c.2983G>T NM_000110​.4:c.2983G>T NP_000101​.2:p.Val995Phe rs1801268
rs78060119DPYD*12, c.1156G>TNM_000110.4:c.1156G>TNP_000101.2:p.Glu386Ter rs78060119
rs115232898557A>G (Y186C) NM_000110​.4:c.557A>G NP_000101​.2:p.Tyr186Cys rs115232898
rs2297595496A>G (M166V) NM_000110​.4:c.496A>G NP_000101​.2:p.Met166Val rs2297595
rs75017182
rs56038477		HapB3
1129-5923C>G
1236G>A		 NM_000110​.4:c.1129-5923C>G
NM_000110​.4:c.1236G>A 		Altered mRNA splicing due to cryptic splice donor site leads to retention of intronic sequence, introduces premature termination codon in resulting protein. rs75017182
rs56038477
NP_000101.2:p.Glu412=

From: Fluorouracil Therapy and DPYD Genotype

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Medical Genetics Summaries [Internet].
Pratt VM, Scott SA, Pirmohamed M, et al., editors.
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